Canonical Allele Identifier: CA658684015

Gene: NF1

Linked Data

• ClinVar Variation Id: 488562
• ClinVar RCV Id: RCV000578384
• dbSNP Id: rs1555619413
• MyVariant Identifiers: chr17:g.29592338_29592342del (hg19) ; chr17:g.31265320_31265324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265322_31265326del , CM000679.2:g.31265322_31265326del	GRCh38
NC_000017.10:g.29592340_29592344del , CM000679.1:g.29592340_29592344del	GRCh37
NC_000017.9:g.26616466_26616470del	NCBI36
NG_009018.1:g.175346_175350del , LRG_214:g.175346_175350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.620_624del	ENSP00000492721.2:n.620_624del
ENST00000696138.1:c.4800_4804del	ENSP00000512431.1:p.Phe1600LeufsTer14
ENST00000696140.1:n.924_928del
ENST00000696141.1:c.809_813del
ENST00000687863.1:n.1463_1467del
ENST00000691014.1:c.4848_4852del	ENSP00000510595.1:p.Phe1616LeufsTer14
ENST00000358273.9:c.4818_4822del MANE Select	ENSP00000351015.4:p.Phe1606LeufsTer14
ENST00000356175.7:c.4755_4759del	ENSP00000348498.3:p.Phe1585LeufsTer14
ENST00000358273.8:c.4818_4822del	ENSP00000351015.4:p.Phe1606LeufsTer14
ENST00000456735.6:c.3753_3757del	ENSP00000389907.2:p.Phe1251LeufsTer14
ENST00000493220.5:n.3291_3295del
ENST00000579081.5:c.4857_4861del	ENSP00000462408.1:p.Phe1619LeufsTer23
NM_000267.3:c.4755_4759del , LRG_214t1:c.4755_4759del	NP_000258.1:p.Phe1585LeufsTer14
NM_001042492.2:c.4818_4822del , LRG_214t2:c.4818_4822del	NP_001035957.1:p.Phe1606LeufsTer14
XM_005257983.1:c.4818_4822del	XP_005258040.1:p.Phe1606LeufsTer14
XM_005257984.1:c.4755_4759del	XP_005258041.1:p.Phe1585LeufsTer14
XM_006721922.1:c.4848_4852del	XP_006721985.1:p.Phe1616LeufsTer14
XM_006721923.2:c.4809_4813del	XP_006721986.1:p.Phe1603LeufsTer14
XM_006721924.1:c.4848_4852del	XP_006721987.1:p.Phe1616LeufsTer14
XM_006721925.1:c.4785_4789del	XP_006721988.1:p.Phe1595LeufsTer14
XM_006721926.2:c.4848_4852del	XP_006721989.1:p.Phe1616LeufsTer14
XM_006721927.1:c.4848_4852del	XP_006721990.1:p.Phe1616LeufsTer14
XM_006721928.2:c.4848_4852del	XP_006721991.1:p.Phe1616LeufsTer?
XM_011524852.1:c.4845_4849del	XP_011523154.1:p.Phe1615LeufsTer14
XM_011524853.1:c.4809_4813del	XP_011523155.1:p.Phe1603LeufsTer14
XM_011524854.1:c.4809_4813del	XP_011523156.1:p.Phe1603LeufsTer14
XM_011524855.1:c.4809_4813del	XP_011523157.1:p.Phe1603LeufsTer14
XM_011524856.1:c.4809_4813del	XP_011523158.1:p.Phe1603LeufsTer14
XM_011524857.1:c.4848_4852del	XP_011523159.1:p.Phe1616LeufsTer14
NM_001042492.3:c.4818_4822del MANE Select	NP_001035957.1:p.Phe1606LeufsTer14